Gene Summary
IMPC Data Collections
- Body Weight Measurements
- No Embryo Imaging Data
- Viability Data
The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.
Phenotype | System | Allele | Zyg | Sex | Life Stage | P Value |
---|---|---|---|---|---|---|
abnormal locomotor behavior | Sec31aem3(IMPC)H | HET | Early adult | 5.93×10-05 | ||
increased circulating alkaline phosphatase level | Sec31aem3(IMPC)H | HET | Early adult | 2.40×10-09 | ||
increased grip strength | Sec31aem3(IMPC)H | HET | Early adult | 7.06×10-07 | ||
preweaning lethality, complete penetrance | Sec31aem3(IMPC)H | HOM | Early adult | 0.00 | ||
decreased fasting circulating glucose level | Sec31aem3(IMPC)H | HET | Early adult | 3.36×10-05 | ||
increased circulating aspartate transaminase level | Sec31aem3(IMPC)H | HET | Early adult | 1.38×10-20 | ||
embryonic lethality prior to organogenesis | Sec31aem3(IMPC)H | HOM | E9.5 | 0.00 | ||
embryonic lethality prior to tooth bud stage | Sec31aem3(IMPC)H | HOM | E12.5 | 0.00 | ||
increased circulating alanine transaminase level | Sec31aem3(IMPC)H | HET | Early adult | 0.00 |
The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.
Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.
The table below shows human diseases associated to Sec31a by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Halperin-Birk Syndrome | Inability to walk | OMIM:618651 |
The table below shows human diseases predicted to be associated to Sec31a by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Cramps, Familial Adolescent | Elevated circulating creatine kinase concentration | OMIM:218050 | |
Muscle Cramps, Familial | Elevated circulating creatine kinase concentration | OMIM:158400 | |
Pentosuria | Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level | ORPHA:2843 | |
Hyperinsulinism Due To Insr Deficiency | Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... | ORPHA:263458 | |
Halperin-Birk Syndrome | Inability to walk | OMIM:618651 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Sec31aem4(IMPC)H | Exon Deletion | Mice |
Sec31atm462983(L1L2_GT2_LF2A_LacZ_BetactP_neo) | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors |
Sec31aem3(IMPC)H | Exon Deletion | Mice |
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